A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693547



Internal ID15073490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238776371..238777869hg38UCSC Ensembl
Outerchr2:238775372..238778869hg38UCSC Ensembl
chr2:239685012..239686510hg19UCSC Ensembl
Outerchr2:239684013..239687510hg19UCSC Ensembl
chr2:239349752..239351250hg18UCSC Ensembl
Innerchr2:239350752..239350250hg18UCSC Ensembl
Outerchr2:239348752..239352250hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3431725
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693547
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer